Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs148529020
rs148529020
ABCC8
2 1.000 0.040 11 17460613 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs149131600
rs149131600
HPN ; HPN-AS1
2 1.000 0.040 19 35058218 intron variant C/A;T snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs150179526
rs150179526
GCG ; LOC101929532
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs1543654
rs1543654 		2 1.000 0.040 21 34426752 upstream gene variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs15673
rs15673
SLC16A6 ; ARSG
2 1.000 0.040 17 68267123 3 prime UTR variant C/A;T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs161827
rs161827
TNFRSF9
2 1.000 0.040 1 7921974 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs17137004
rs17137004
FOXP2
2 1.000 0.040 7 114389196 intron variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs17238540
rs17238540
HMGCR ; CERT1
2 1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1744
rs1744
HLA-DQA2
2 1.000 0.040 6 32747257 downstream gene variant A/T snv 1.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs17791685
rs17791685
APPL1 ; ASB14 ; LOC105377102
2 1.000 0.040 3 57272583 3 prime UTR variant C/A snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs181914721
rs181914721
ADAMTSL3
2 1.000 0.040 15 83819856 missense variant G/A snv 3.7E-04 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs181914932
rs181914932 		2 1.000 0.040 20 45932640 non coding transcript exon variant T/C snv 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs199976415
rs199976415
NR0B2 ; NUDC
2 1.000 0.040 1 26911982 missense variant G/A snv 6.0E-05 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs2236513
rs2236513
TOM1L2
2 1.000 0.040 17 17844052 3 prime UTR variant A/C;G snv 0.58 0.010 1.000 1 2006 2006
dbSNP: rs2276048
rs2276048
INPPL1
2 1.000 0.040 11 72230168 synonymous variant A/G snv 0.24 0.28 0.010 1.000 1 2012 2012
dbSNP: rs2284912
rs2284912
PCSK2
2 1.000 0.040 20 17457568 intron variant T/C snv 1.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs2296966
rs2296966
SORBS1
2 1.000 0.040 10 95314667 3 prime UTR variant G/A snv 6.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs2299620
rs2299620
KCNQ1
2 1.000 0.040 11 2837065 intron variant C/T snv 0.11 0.010 1.000 1 2013 2013
dbSNP: rs2304796
rs2304796
PLIN1
2 1.000 0.040 15 89667026 synonymous variant G/A;C snv 0.28; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs2335491
rs2335491
FGFRL1
2 1.000 0.040 4 1017278 intron variant T/A;G snv 9.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs2431332
rs2431332
DMGDH
2 1.000 0.040 5 79025286 intron variant A/G snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs2671222
rs2671222
CXCR1
2 1.000 0.040 2 218167879 upstream gene variant T/C snv 0.89 0.010 1.000 1 2011 2011
dbSNP: rs2863389
rs2863389 		2 1.000 0.040 3 166431104 intergenic variant C/T snv 0.17 0.010 1.000 1 2007 2007
dbSNP: rs3087684
rs3087684
APPL1 ; ASB14 ; LOC105377102
2 1.000 0.040 3 57272291 3 prime UTR variant T/C snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs370963321
rs370963321
HDAC4
2 1.000 0.040 2 239134419 missense variant C/T snv 6.0E-04 4.2E-05 0.010 1.000 1 2019 2019